Canonical Allele Identifier: CA350294213

Gene: CASP8

Linked Data

• gnomAD v4: 2-201276909-G-C
• MyVariant Identifiers: chr2:g.202141632G>C (hg19) ; chr2:g.201276909G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201276909G>C , CM000664.2:g.201276909G>C	GRCh38
NC_000002.11:g.202141632G>C , CM000664.1:g.202141632G>C	GRCh37
NC_000002.10:g.201849877G>C	NCBI36
NG_007497.1:g.48452G>C , LRG_34:g.48452G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413726.6:c.743G>C	ENSP00000397528.2:p.Arg248Pro
ENST00000440732.6:c.743G>C	ENSP00000396869.2:p.Arg248Pro
ENST00000444430.3:c.550+4133G>C	ENSP00000394434.3:n.550+4133G>C
ENST00000447616.6:c.633G>C	ENSP00000388306.2:p.Thr211=
ENST00000450491.6:c.389G>C	ENSP00000391709.2:p.Arg130Pro
ENST00000696067.1:c.743G>C	ENSP00000512369.1:p.Arg248Pro
ENST00000696068.1:c.633G>C	ENSP00000512370.1:p.Thr211=
ENST00000696069.1:c.698G>C	ENSP00000512371.1:p.Arg233Pro
ENST00000696085.1:c.875G>C	ENSP00000512381.1:p.Arg292Pro
ENST00000696087.1:c.698G>C	ENSP00000512382.1:p.Arg233Pro
ENST00000673742.1:c.743G>C MANE Select	ENSP00000501268.1:p.Arg248Pro
ENST00000264274.13:c.550+4133G>C	ENSP00000264274.9:n.550+4133G>C
ENST00000264275.9:c.794G>C	ENSP00000264275.5:p.Arg265Pro
ENST00000323492.11:c.698G>C	ENSP00000325722.7:p.Arg233Pro
ENST00000339403.6:n.828G>C
ENST00000358485.8:c.920G>C	ENSP00000351273.4:p.Arg307Pro
ENST00000392258.7:c.678G>C	ENSP00000376087.3:p.Thr226=
ENST00000392263.6:c.698G>C	ENSP00000376091.2:p.Arg233Pro
ENST00000392266.7:c.698G>C	ENSP00000376094.4:p.Arg233Pro
ENST00000424461.5:c.222G>C	ENSP00000390346.1:p.Thr74=
ENST00000432109.6:c.743G>C	ENSP00000412523.2:p.Arg248Pro
ENST00000444430.2:c.139+4133G>C	ENSP00000394434.2:n.139+4133G>C
ENST00000450491.5:c.389G>C	ENSP00000391709.1:p.Arg130Pro
NM_001080124.1:c.698G>C	NP_001073593.1:p.Arg233Pro
NM_001080125.1:c.920G>C	NP_001073594.1:p.Arg307Pro
NM_001228.4:c.794G>C , LRG_34t1:c.794G>C	NP_001219.2:p.Arg265Pro
NM_033355.3:c.743G>C , LRG_34t2:c.743G>C	NP_203519.1:p.Arg248Pro
NM_033356.3:c.698G>C	NP_203520.1:p.Arg233Pro
NM_033358.3:c.678G>C	NP_203522.1:p.Thr226=
NR_111983.1:n.1121G>C
XM_005246885.1:c.875G>C	XP_005246942.1:p.Arg292Pro
XM_005246886.1:c.743G>C	XP_005246943.1:p.Arg248Pro
XM_005246887.1:c.743G>C	XP_005246944.1:p.Arg248Pro
XM_005246888.1:c.743G>C	XP_005246945.1:p.Arg248Pro
XM_005246889.1:c.743G>C	XP_005246946.1:p.Arg248Pro
XM_005246890.2:c.743G>C	XP_005246947.1:p.Arg248Pro
XM_005246891.3:c.743G>C	XP_005246948.1:p.Arg248Pro
XM_005246892.1:c.698G>C	XP_005246949.1:p.Arg233Pro
XM_005246893.2:c.855G>C	XP_005246950.1:p.Thr285=
XM_005246894.2:c.146G>C	XP_005246951.1:p.Arg49Pro
XM_005246895.2:c.810G>C	XP_005246952.1:p.Thr270=
XM_006712789.1:c.743G>C	XP_006712852.1:p.Arg248Pro
XM_006712790.2:c.743G>C	XP_006712853.1:p.Arg248Pro
XM_006712791.1:c.727+4133G>C	XP_006712854.1:n.727+4133G>C
XM_006712793.2:c.678G>C	XP_006712856.1:p.Thr226=
XM_011511968.1:c.920G>C	XP_011510270.1:p.Arg307Pro
XM_011511969.1:c.308G>C	XP_011510271.1:p.Arg103Pro
XM_011511970.1:c.855G>C	XP_011510272.1:p.Thr285=
XR_923035.1:n.876G>C
XM_005246885.2:c.875G>C	XP_005246942.1:p.Arg292Pro
XM_005246886.2:c.743G>C	XP_005246943.1:p.Arg248Pro
XM_005246887.2:c.743G>C	XP_005246944.1:p.Arg248Pro
XM_005246888.2:c.743G>C	XP_005246945.1:p.Arg248Pro
XM_005246889.2:c.743G>C	XP_005246946.1:p.Arg248Pro
XM_005246890.4:c.743G>C	XP_005246947.1:p.Arg248Pro
XM_005246891.5:c.743G>C	XP_005246948.1:p.Arg248Pro
XM_005246892.2:c.698G>C	XP_005246949.1:p.Arg233Pro
XM_005246893.3:c.855G>C	XP_005246950.1:p.Thr285=
XM_005246894.4:c.146G>C	XP_005246951.1:p.Arg49Pro
XM_005246895.3:c.810G>C	XP_005246952.1:p.Thr270=
XM_006712789.2:c.743G>C	XP_006712852.1:p.Arg248Pro
XM_006712790.4:c.743G>C	XP_006712853.1:p.Arg248Pro
XM_006712793.3:c.678G>C	XP_006712856.1:p.Thr226=
XM_011511969.2:c.308G>C	XP_011510271.1:p.Arg103Pro
XR_001738971.1:n.954G>C
NM_001080124.2:c.698G>C	NP_001073593.1:p.Arg233Pro
NM_001080125.2:c.920G>C	NP_001073594.1:p.Arg307Pro
NM_001372051.1:c.743G>C MANE Select	NP_001358980.1:p.Arg248Pro
NM_033356.4:c.698G>C	NP_203520.1:p.Arg233Pro
NM_033358.4:c.678G>C	NP_203522.1:p.Thr226=
NR_111983.2:n.1117G>C
NM_001400642.1:c.875G>C	NP_001387571.1:p.Arg292Pro
NM_001400645.1:c.776G>C	NP_001387574.1:p.Arg259Pro
NM_001400648.1:c.743G>C	NP_001387577.1:p.Arg248Pro
NM_001400651.1:c.743G>C	NP_001387580.1:p.Arg248Pro
NM_001400653.1:c.743G>C	NP_001387582.1:p.Arg248Pro
NM_001400654.1:c.743G>C	NP_001387583.1:p.Arg248Pro
NM_001400655.1:c.743G>C	NP_001387584.1:p.Arg248Pro
NM_001400656.1:c.743G>C	NP_001387585.1:p.Arg248Pro
NM_001400657.1:c.743G>C	NP_001387586.1:p.Arg248Pro
NM_001400658.1:c.698G>C	NP_001387587.1:p.Arg233Pro
NM_001400659.1:c.698G>C	NP_001387588.1:p.Arg233Pro
NM_001400660.1:c.698G>C	NP_001387589.1:p.Arg233Pro
NM_001400661.1:c.698G>C	NP_001387590.1:p.Arg233Pro
NM_001400662.1:c.698G>C	NP_001387591.1:p.Arg233Pro
NM_001400663.1:c.698G>C	NP_001387592.1:p.Arg233Pro
NM_001400664.1:c.674G>C	NP_001387593.1:p.Arg225Pro
NM_001400665.1:c.727+4133G>C	NP_001387594.1:n.727+4133G>C
NM_001400666.1:c.595+3967G>C	NP_001387595.1:n.595+3967G>C
NM_001400667.1:c.550+4133G>C	NP_001387596.1:n.550+4133G>C
NM_001400668.1:c.550+4133G>C	NP_001387597.1:n.550+4133G>C
NM_001400669.1:c.434G>C	NP_001387598.1:p.Arg145Pro
NM_001400670.1:c.743G>C	NP_001387599.1:p.Arg248Pro
NM_001400671.1:c.146G>C	NP_001387600.1:p.Arg49Pro
NM_001400672.1:c.146G>C	NP_001387601.1:p.Arg49Pro
NM_001400673.1:c.146G>C	NP_001387602.1:p.Arg49Pro
NM_001400674.1:c.128G>C	NP_001387603.1:p.Arg43Pro
NM_001400675.1:c.101G>C	NP_001387604.1:p.Arg34Pro
NM_001400676.1:c.101G>C	NP_001387605.1:p.Arg34Pro
NM_001400677.1:c.101G>C	NP_001387606.1:p.Arg34Pro
NM_001400678.1:c.101G>C	NP_001387607.1:p.Arg34Pro
NM_001400679.1:c.678G>C	NP_001387608.1:p.Thr226=
NM_001400680.1:c.128G>C	NP_001387609.1:p.Arg43Pro
NM_001400750.1:c.146G>C	NP_001387679.1:p.Arg49Pro
NM_001400751.1:c.101G>C	NP_001387680.1:p.Arg34Pro
NR_174564.1:n.696G>C
NR_174565.1:n.826G>C
NR_174581.1:n.852G>C
NR_174583.1:n.958G>C
NR_174584.1:n.1007G>C
NR_174585.1:n.889G>C
NR_174586.1:n.863G>C
NR_174588.1:n.1026G>C
NR_174589.1:n.821G>C
NR_174590.1:n.913G>C
NR_174591.1:n.844G>C
NR_174592.1:n.1189G>C
NR_174593.1:n.987G>C
NR_174594.1:n.1030G>C
NR_174595.1:n.945G>C
NR_174596.1:n.782G>C
NR_174598.1:n.1140G>C
NR_174599.1:n.719+1956G>C
NR_174600.1:n.1052G>C
NR_174601.1:n.977G>C
NR_174602.1:n.847G>C